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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Cys336_Asp345delinsSerSerValArgLysAlaSerSerTrpThr;His347_Lys349delinsThrArgArgPro;Cys351_Gly355delinsArgLeuTrpAlaPro;Ile357_Phe362delinsProThrSerSerSerPro;Asn364_Arg365delinsGly]
CA645373247
NM_001195799.2:c.1007del